Canonical Allele Identifier: CA367397273
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2867056
ClinVar RCV Id: RCV003700530

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145270G>C , CM000669.2:g.44145270G>C GRCh38
NC_000007.13:g.44184869G>C , CM000669.1:g.44184869G>C GRCh37
NC_000007.12:g.44151394G>C NCBI36
NG_008847.1:g.49154C>G
NG_008847.2:g.57901C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1262C>G ENSP00000379142.4:n.*1262C>G
ENST00000616242.5:c.*384C>G ENSP00000482149.2:n.*384C>G
ENST00000683378.1:n.490C>G
ENST00000336642.9:c.298C>G ENSP00000338009.5:p.Arg100Gly
ENST00000345378.7:c.1267C>G ENSP00000223366.2:p.Arg423Gly
ENST00000403799.8:c.1264C>G MANE Select ENSP00000384247.3:p.Arg422Gly
ENST00000671824.1:c.1327C>G ENSP00000500264.1:p.Arg443Gly
ENST00000672743.1:n.276C>G
ENST00000673284.1:c.1264C>G ENSP00000499852.1:p.Arg422Gly
ENST00000336642.8:c.316C>G ENSP00000338009.4:p.Arg106Gly
ENST00000345378.6:c.1267C>G ENSP00000223366.2:p.Arg423Gly
ENST00000395796.7:c.1261C>G ENSP00000379142.3:p.Arg421Gly
ENST00000403799.7:c.1264C>G ENSP00000384247.3:p.Arg422Gly
ENST00000437084.1:c.1213C>G ENSP00000402840.1:p.Arg405Gly
ENST00000459642.1:n.644C>G
ENST00000616242.4:c.1261C>G ENSP00000482149.1:p.Arg421Gly
NM_000162.3:c.1264C>G NP_000153.1:p.Arg422Gly
NM_033507.1:c.1267C>G NP_277042.1:p.Arg423Gly
NM_033508.1:c.1261C>G NP_277043.1:p.Arg421Gly
NM_000162.4:c.1264C>G NP_000153.1:p.Arg422Gly
NM_001354800.1:c.1264C>G NP_001341729.1:p.Arg422Gly
NM_001354801.1:c.253C>G NP_001341730.1:p.Arg85Gly
NM_001354802.1:c.124C>G NP_001341731.1:p.Arg42Gly
NM_001354803.1:c.298C>G NP_001341732.1:p.Arg100Gly
NM_033507.2:c.1267C>G NP_277042.1:p.Arg423Gly
NM_033508.2:c.1261C>G NP_277043.1:p.Arg421Gly
XM_024446707.1:c.124C>G XP_024302475.1:p.Arg42Gly
NM_000162.5:c.1264C>G MANE Select NP_000153.1:p.Arg422Gly
NM_033507.3:c.1267C>G NP_277042.1:p.Arg423Gly
NM_033508.3:c.1261C>G NP_277043.1:p.Arg421Gly
NM_001354803.2:c.298C>G NP_001341732.1:p.Arg100Gly